regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INO80D_chr2_205988721_206091174 | 206071257 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0207 | 1 | 334 | 0.0030 | -23 | c.-12 others(42): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
INO80_chr15_40973880_41121280 | 41117538 | GTCGAATC others(16): Show |
G | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 282 | 0.0036 | -23 | c.-16 others(34): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 1259 | chr15 | TogoVar | ||||||
INPP1_chr2_190338589_190376665 | 190373239 | TTTTTTTT others(16): Show |
T | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0058 | 1 | 410 | 0.0024 | -23 | c.*18 others(34): Show |
INPP1 | ENSG00000151689.13 | transcript | ENST00000392329.7 | protein_coding | 1575 | chr2 | TogoVar | ||||||
INPP4B_chr4_142018160_142851301 | 142215892 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0026 | a0001c0001t0004g0041a0001c0001t0005g0084a0001c0001t0026g0067 | 3 | 90 | 0.0333 | -23 | c.837 others(40): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 12/25 | chr4 | TogoVar | ||||||
INPP4B_chr4_142018160_142851301 | 142693483 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00741.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0085a0001c0001t0002g0031a0001c0001t0002g0038others(28): Show | 31 | 90 | 0.3444 | -23 | c.-19 others(44): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | ||||||
INPP5D_chr2_233055342_233212903 | 233137848 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0186 | 1 | 310 | 0.0032 | -23 | c.666 others(40): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INPP5D_chr2_233055342_233212903 | 233186684 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02080.hp1 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0063a0001c0001t0001g0111others(10): Show | 13 | 310 | 0.0419 | -23 | c.235 others(40): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INPP5F_chr10_119721050_119834147 | 119771868 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 328 | 0.0031 | -23 | c.179 others(40): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5F_chr10_119721050_119834147 | 119771870 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 328 | 0.0031 | -23 | c.179 others(40): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INSC_chr11_15109923_15252208 | 15229990 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 270 | 0.0037 | -23 | c.117 others(42): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
INSR_chr19_7107265_7299414 | 7124540 | GGAAAAAA others(16): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0214 | 1 | 300 | 0.0033 | -23 | c.325 others(40): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7124571 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0034 | a0001c0034t0093 | a0001c0034t0093g0162 | 1 | 300 | 0.0033 | -23 | c.325 others(40): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7124573 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0022 | a0001c0022t0024 | a0001c0022t0024g0074 | 1 | 300 | 0.0033 | -23 | c.325 others(40): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
INSYN2A_chr10_127130430_127201591 | 127164159 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01099.hp1 others(41): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0205a0001c0001t0002g0206others(35): Show | 44 | 284 | 0.1549 | -23 | c.118 others(44): Show |
INSYN2A | ENSG00000188916.9 | transcript | ENST00000522781.6 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
INTS15_chr7_6585021_6613726 | 6598764 | TGTGTGTG others(16): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG02486.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0005 | a0001c0001t0001g0121a0001c0001t0001g0224a0001c0007t0005g0038 | 3 | 394 | 0.0076 | -23 | c.581 others(40): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1507000 | TGTTGACA others(16): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 | 2 | 316 | 0.0063 | -23 | c.-27 others(34): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
INTS6_chr13_51356577_51458036 | 51406432 | CCACCTCC others(16): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 358 | 0.0028 | -23 | c.430 others(42): Show |
INTS6 | ENSG00000102786.15 | transcript | ENST00000311234.9 | protein_coding | 4/17 | chr13 | TogoVar | ||||||
INTS9_chr8_28762661_28894969 | 28780227 | TAAAAAAA others(16): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0009t0001g0207 | 3 | 358 | 0.0084 | -23 | c.127 others(40): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 12/16 | chr8 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154273724 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 264 | 0.0038 | -23 | c.-17 others(40): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236491222 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 208 | 0.0048 | -23 | c.456 others(40): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197933078 | AAAATACA others(16): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 280 | 0.0036 | -23 | c.516 others(38): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197953493 | ATTAACCC others(16): Show |
A | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 280 | 0.0036 | -23 | c.-60 others(40): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 2/11 | chr3 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76496742 | TTTCTTTC others(16): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA19030.hp1 |
a0002a0030 | a0002c0001a0030c0053 | a0002c0001t0003a0030c0053t0003 | a0002c0001t0003g0194a0030c0053t0003g0195 | 2 | 222 | 0.0090 | -23 | c.146 others(42): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IRAG1_chr11_10568095_10698755 | 10658677 | CGTGCTGT others(16): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0005 | a0005c0044 | a0005c0044t0004 | a0005c0044t0004g0225 | 1 | 278 | 0.0036 | -23 | c.68- others(38): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
IRF3_chr19_49654572_49670857 | 49660005 | ACACACAC others(16): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA18961.hp2 NA18965.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0029 | 3 | 400 | 0.0075 | -23 | c.109 others(40): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
ISLR_chr15_74168710_74181871 | 74177561 | TGTGTACA others(16): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | -23 | c.*14 others(34): Show |
ISLR | ENSG00000129009.13 | transcript | ENST00000249842.8 | protein_coding | 691 | chr15 | TogoVar | ||||||
ISOC1_chr5_129089749_129119028 | 129090626 | AATGAGGG others(16): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp1 others(66): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0009 | a0001c0001t0001a0001c0001t0008a0001c0003t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0021others(33): Show | 69 | 418 | 0.1651 | -23 | c.-41 others(34): Show |
ISOC1 | ENSG00000066583.12 | transcript | ENST00000173527.6 | protein_coding | 4122 | chr5 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55450106 | GGACCCAG others(16): Show |
G | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 380 | 0.0026 | -23 | c.*31 others(34): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2878 | chr19 | TogoVar | ||||||
IST1_chr16_71890531_71936199 | 71892178 | CAAAAAAA others(16): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0029a0001c0001t0003g0283others(10): Show | 15 | 352 | 0.0426 | -23 | c.-34 others(34): Show |
IST1 | ENSG00000182149.21 | transcript | ENST00000378799.11 | protein_coding | 3352 | chr16 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68400838 | TTATATTA others(16): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0018 | a0005c0018t0101 | a0005c0018t0101g0030 | 1 | 242 | 0.0041 | -23 | c.164 others(40): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368134 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 354 | 0.0028 | -23 | c.*42 others(34): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4046 | chr17 | TogoVar | ||||||
ITGA2_chr5_52984352_53099779 | 53092928 | TGAAACCC others(16): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00621.hp1 others(35): Show |
a0002a0013 | a0002c0003a0002c0007a0002c0009others(1): Show | a0002c0003t0007a0002c0003t0017a0002c0003t0026others(4): Show | a0002c0003t0007g0018a0002c0003t0007g0019a0002c0003t0007g0072others(33): Show | 38 | 398 | 0.0955 | -23 | c.*23 others(34): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 30/30 | 2330 | chr5 | TogoVar | |||||
ITGA8_chr10_15508954_15724922 | 15586353 | CTGGCATA others(16): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0220 | 1 | 220 | 0.0046 | -23 | c.237 others(40): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 23/29 | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512008 | CTTTTCTT others(16): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0026 | a0003c0026t0029 | a0003c0026t0029g0154 | 1 | 168 | 0.0060 | -23 | c.898 others(40): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512112 | CCTTCCTT others(16): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0095 | 1 | 168 | 0.0060 | -23 | c.898 others(40): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31272451 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0061 | 1 | 244 | 0.0041 | -23 | c.704 others(38): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31334681 | TTTCTTTC others(16): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03688.hp1 HG04115.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0061a0002c0003t0003g0085a0002c0003t0003g0116 | 3 | 244 | 0.0123 | -23 | c.*29 others(34): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1805 | chr16 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9425746 | GTTTACAT others(16): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(79): Show | a0001c0001t0002g0005a0001c0001t0002g0216a0001c0001t0002g0222others(88): Show | 103 | 276 | 0.3732 | -23 | c.-24 others(34): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 2219 | chr2 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44884525 | GTAGACAC others(16): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02723.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0007a0001c0009a0001c0014 | a0001c0007t0001a0001c0009t0001a0001c0014t0001 | a0001c0007t0001g0369a0001c0007t0001g0385a0001c0009t0001g0277others(1): Show | 4 | 444 | 0.0090 | -23 | c.*18 others(34): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1427 | chr21 | TogoVar | ||||||
ITGB2_chr21_44880953_44925899 | 44906455 | TGAAACAG others(16): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0108 | 1 | 444 | 0.0023 | -23 | c.328 others(38): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 4/15 | chr21 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124864096 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02148.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0005others(1): Show | a0001c0001t0002a0001c0001t0014a0001c0008t0002others(3): Show | a0001c0001t0002g0235a0001c0001t0002g0236a0001c0001t0014g0310others(8): Show | 11 | 352 | 0.0313 | -23 | c.157 others(40): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101651385 | TCTCTAAT others(16): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 306 | 0.0033 | -23 | c.101 others(44): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7737523 | CTATGTAT others(16): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0272a0001c0011t0001g0273 | 2 | 380 | 0.0053 | -23 | c.195 others(42): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7566792 | AAGAAGAA others(16): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 NA18959.hp1 others(1): Show |
a0001a0002 | a0001c0006a0002c0003a0002c0004 | a0001c0006t0001a0002c0003t0001a0002c0004t0001others(1): Show | a0001c0006t0001g0136a0002c0003t0001g0103a0002c0004t0001g0226others(1): Show | 4 | 342 | 0.0117 | -23 | c.215 others(40): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7671779 | CCAGGGGA others(16): Show |
C | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0327 | 1 | 342 | 0.0029 | -23 | c.-49 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 4814 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7671786 | AGGTATGT others(16): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01070.hp2 others(59): Show |
a0000a0001a0002others(10): Show | a0000c0025a0000c0034a0000c0065others(17): Show | a0000c0025t0004a0000c0034t0004a0000c0065t0007others(29): Show | a0000c0025t0004g0189a0000c0034t0004g0313a0000c0065t0007g0147others(59): Show | 62 | 342 | 0.1813 | -23 | c.-49 others(34): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 4821 | chr10 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157240918 | TTTTCCTT others(16): Show |
T | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 348 | 0.0029 | -23 | c.986 others(38): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITPKB_chr1_226626690_226744282 | 226660636 | AGGCCTCG others(16): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0003 | a0003c0003t0050 | a0003c0003t0050g0162 | 1 | 350 | 0.0029 | -23 | c.193 others(44): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26567988 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0010a0001c0001t0017a0001c0002t0001others(38): Show | a0001c0001t0010g0127a0001c0001t0017g0102a0001c0002t0001g0071others(39): Show | 42 | 142 | 0.2958 | -23 | c.463 others(42): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26567989 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0017 | a0002c0017t0018 | a0002c0017t0018g0108 | 1 | 142 | 0.0070 | -23 | c.463 others(42): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar |